Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

Sander, Johannes; Janzen, Nils; Terhardt, Michael; Sander, Stefanie; Gokcay, GÜLDEN; Demirkol, Mubeccel; Ozer, Isil; Peter, Michael; Das, Anibh

doi:10.1016/j.cca.2010.09.027

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

Sander J., Janzen N., Terhardt M., Sander S., Gokcay G. F., Demirkol M., ...More

Clinica chimica acta; international journal of clinical chemistry, vol.412, pp.134-8, 2011 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 412
Publication Date: 2011
Doi Number: 10.1016/j.cca.2010.09.027
Journal Name: Clinica chimica acta; international journal of clinical chemistry
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.134-8
Keywords: Tyrosine, Nitisinone, NTBC, Tyrosinaemia type I, Monitoring therapy, Blood spot testing, TANDEM MASS-SPECTROMETRY, HEREDITARY TYROSINEMIA, LIVER-TRANSPLANTATION, HEPATORENAL TYROSINEMIA, AMINO-ACIDS, SUCCINYLACETONE, EXPERIENCE, 2-(2-NITRO-4-TRIFLUOROMETHYLBENZOYL)-1,3-CYCLOHEXANEDIONE, PLASMA
Istanbul University Affiliated: Yes

Abstract

Background: Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM 276700).